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CCDC185 (Coiled-Coil Domain Containing 185) is a Protein Coding gene. Diseases associated with CCDC185 include Dystonia 23 and Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J223393 | Promoter | 0.6 | Ensembl | 250.7 | 0.0 | -14 | 1.2 | ELF1 EZH2 ZNF687 ZFX | CCDC185 LOC105373025 lnc-SUSD4-1 SUSD4 | |
GH01J223402 | Enhancer | 1 | Ensembl ENCODE | 0.4 | +9.4 | 9438 | 1.7 | CEBPB EP300 RFX5 ZNF316 FOSL1 PRDM6 JUND NFE2 ATF1 CUX1 | NVL ENSG00000272750 CICP5 CICP13 CCDC185 MN309174-028 MN309174-029 CAPN8 | |
GH01J223411 | Enhancer | 0.5 | Ensembl ENCODE | 0.4 | +18.1 | 18112 | 1.1 | SPI1 FOS | SUSD4 MN309174-028 CCDC185 MN309174-029 CAPN8 | |
GH01J223421 | Enhancer | 0.5 | Ensembl | 0.3 | +28.2 | 28186 | 0.8 | ZNF316 ZBTB48 ZFX MAFK YY2 PRDM10 EMSY | SUSD4 MN309174-028 MN309174-029 CCDC185 HSALNG0010889 CAPN8 | |
GH01J223429 | Enhancer | 0.5 | Ensembl ENCODE | 0.3 | +36.6 | 36586 | 2 | CTCF ZNF404 | SUSD4 ENSG00000272750 MN309174-029 MN309174-028 CCDC185 HSALNG0010889 CAPN8 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C1H1orf65 30 |
|
||
C1orf65 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | C16H1orf65 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | LOC289334 30 |
|
||
Mouse (Mus musculus) |
Mammalia | 4922505E12Rik 30 31 |
|
OneToOne | |
Ccdc185 17 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | C1orf65 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | C1orf65 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C1orf65 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | C1orf65 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10907376 | - |
p.Gly329Asp |
|||
rs17852896 | - |
p.Arg380Leu |
|||
rs6682552 | - |
p.Arg331Trp |
|||
rs6689850 | - |
p.Val195Ala |
Disorder | Aliases | PubMed IDs |
---|---|---|
dystonia 23 |
|
|
adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete |
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